The dominant form of the pigmentary orthochromatic leukodystrophy

摘要: The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). clinical features these and histochemical ultrastructural investigations the brains from are discussed. A review familial POLD reported literature is also presented. Transmission was by dominant inheritance. Onset symptoms occurred at 42 to 54 years age; duration disease 2–11 years, death 45 57 age. Clinical manifestations all were severe headaches; bilateral pyramidal, pseudobulbar, cerebellar, frontal release signs; gait disturbances; euphoria, or apathy; epileptic seizures; dementia. neuropathological pattern consists slight cerebral atrophy, brownish discoloration white matter demyelination gliosis, sparing sub-cortical U fibers; presence macrophages lipid pigment granules that sudanophilic, non metachromatic, PAS iron positive. electron microscopic ceroid: electron-dense, membrane-bound intracytoplasmic lysosomes curvilinear and/or fingerprint profiles.